K123R (p.Lys123Arg) variant of ABCA1 (O95477)
K123R (p.Lys123Arg) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K123R (p.Lys123Arg) variant details
- p.Lys123Arg
- gnomAD rs1292688118
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.23
- MetaLR 0.64
- MetaSVM -0.17
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available